Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2464
Gene Symbol: FRA16E
FRA16E 		fragile site, distamycin A type, rare, fra(16)(p12.1) 0.931 0.077
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142 		zinc finger protein 142 0.861 0.192 4.8E-16
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 0 0 2019 2019
Entrez Id: 51116
Gene Symbol: MRPS2
MRPS2 		mitochondrial ribosomal protein S2 0.839 0.154 3.1E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 55084
Gene Symbol: SOBP
SOBP 		sine oculis binding protein homolog 0.839 0.192 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 790955
Gene Symbol: UQCC3
UQCC3 		ubiquinol-cytochrome c reductase complex assembly factor 3 0.839 0.038 3.2E-02
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 55621
Gene Symbol: TRMT1
TRMT1 		tRNA methyltransferase 1 0.821 0.269 1.9E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 0 0 2017 2017
Entrez Id: 27107
Gene Symbol: ZBTB11
ZBTB11 		zinc finger and BTB domain containing 11 0.805 0.192 3.2E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 29929
Gene Symbol: ALG6
ALG6 		ALG6 alpha-1,3-glucosyltransferase 0.805 0.231 3.1E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 54112
Gene Symbol: GPR88
GPR88 		G protein-coupled receptor 88 0.805 0.115 0.75
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 63931
Gene Symbol: MRPS14
MRPS14 		mitochondrial ribosomal protein S14 0.805 0.231 1.6E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 80311
Gene Symbol: KLHL15
KLHL15 		kelch like family member 15 0.805 0.192 0.99
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 84705
Gene Symbol: GTPBP3
GTPBP3 		GTP binding protein 3, mitochondrial 0.805 0.154 4.2E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 85300
Gene Symbol: ATCAY
ATCAY 		ATCAY kinesin light chain interacting caytaxin 0.805 0.192 0.62
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 11222
Gene Symbol: MRPL3
MRPL3 		mitochondrial ribosomal protein L3 0.792 0.192 1.3E-12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 341208
Gene Symbol: HEPHL1
HEPHL1 		hephaestin like 1 0.792 0.231 1.1E-34
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 54872
Gene Symbol: PIGG
PIGG 		phosphatidylinositol glycan anchor biosynthesis class G 0.792 0.231 5.4E-15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 81689
Gene Symbol: ISCA1
ISCA1 		iron-sulfur cluster assembly 1 0.792 0.231 0.17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 85015
Gene Symbol: USP45
USP45 		ubiquitin specific peptidase 45 0.792 0.154 1.4E-17
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 8812
Gene Symbol: CCNK
CCNK 		cyclin K 0.792 0.231 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 388662
Gene Symbol: SLC6A17
SLC6A17 		solute carrier family 6 member 17 0.780 0.308 0.50
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 83480
Gene Symbol: PUS3
PUS3 		pseudouridine synthase 3 0.780 0.346 1.4E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 strong 1.000 0 0 2016 2016
Entrez Id: 11133
Gene Symbol: KPTN
KPTN 		kaptin, actin binding protein 0.769 0.192 1.1E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2015 2015
Entrez Id: 197258
Gene Symbol: FCSK
FCSK 		fucose kinase 0.769 0.192 1.0E-29
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.400 moderate 1.000 0 0 2018 2018
Entrez Id: 27247
Gene Symbol: NFU1
NFU1 		NFU1 iron-sulfur cluster scaffold 0.769 0.231 4.1E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 51109
Gene Symbol: RDH11
RDH11 		retinol dehydrogenase 11 0.769 0.346 1.1E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0